MYH6

myosin heavy chain 6
OMIM: 160710, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Red MYH6 in Hypertrophic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 4.7 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red South West GLH London South GLH North West GLH Wessex and West Midlands GLH Expert list Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Cardiomyopathy, dilated, 1EE (613252) Atrial septal defect 3 (614089) {Sick sinus syndrome 3} (614090) Cardiomyopathy, hypertrophic, 14 (613251) Cardiomyopathy, familial hypertrophic, 14
Green MYH6 in Dilated Cardiomyopathy and conduction defects Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.85	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH London South GLH North West GLH Expert Review Green UKGTN Expert list Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Cardiomyopathy, dilated, 1EE (613252) Atrial septal defect 3 (614089) {Sick sinus syndrome 3} (614090) Cardiomyopathy, hypertrophic, 14 (613251) Cardiomyopathy, dilated, 1EE
Green MYH6 in Familial non syndromic congenital heart disease Level 3: Congenital heart disease Level 2: Cardiovascular disorders Version 1.80	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Atrial septal defect 3 614089 Shone complex
Red MYH6 in Laterality disorders and isomerism Version 3.9 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes visceral heterotaxy, MONDO:0018677
Amber MYH6 in Dilated and arrhythmogenic cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 2.22 Latest signed off version: v2.8 (22 Mar 2023) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber UKGTN South West GLH Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Expert list Emory Genetics Laboratory South West GLH London South GLH North West GLH Phenotypes Cardiomyopathy, hypertrophic, 14 (613251) Cardiomyopathy, dilated, 1EE (613252) {Sick sinus syndrome 3} (614090) Atrial septal defect 3 (614089) Cardiomyopathy, dilated, 1EE
Green MYH6 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green PAGE DD-Gene2Phenotype Phenotypes ATRIAL SEPTAL DEFECT TYPE 3 CARDIOMYOPATHY DILATED TYPE 1EE CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14
Red MYH6 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red DD-Gene2Phenotype Phenotypes CARDIOMYOPATHY DILATED TYPE 1EE 613252 CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251 ATRIAL SEPTAL DEFECT TYPE 3 614089
Red MYH6 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Cardiomyopathy
Red MYH6 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cardiomyopathy, familial hypertrophic, 14, 613251 Atrial septal defect 3, 614089 Cardiomyopathy, dilated, 1EE, 613252 {Sick sinus syndrome 3}, 614090
Green MYH6 in Paediatric or syndromic cardiomyopathy Version 3.47 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London South GLH Expert Review Green Phenotypes Atrial septal defect 3, OMIM:614089 Cardiomyopathy, dilated, 1EE OMIM:613252 Cardiomyopathy, hypertrophic, 14, OMIM:613251 {Sick sinus syndrome 3}, OMIM:614090
Red MYH6 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	Not set	Sources NHS GMS South West GLH Emory Genetics Laboratory NHS GMS South West GLH Phenotypes Cardiomyopathy
Green MYH6 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Cardiomyopathy, hypertrophic, 14, 613251 Cardiomyopathy, dilated, 1EE, 613252 Atrial septal defect 3, 614089